TSPAN12
Tetraspanin-12
Also known as: NET-2, TM4SF12, TSN12_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O95859
- Gene
- TSPAN12
- Ensembl
- ENSG00000106025
- Chromosome
- 7
- Canonical length
- 305 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Vesicles,Microtubules
OverviewNCBI Gene
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
305 residues, UniProt reviewed canonical sequence.
>O95859|TSPAN12
1 MAREDSVKCL RCLLYALNLL FWLMSISVLA VSAWMRDYLN NVLTLTAETR VEEAVILTYF
61 PVVHPVMIAV CCFLIIVGML GYCGTVKRNL LLLAWYFGSL LVIFCVELAC GVWTYEQELM
121 VPVQWSDMVT LKARMTNYGL PRYRWLTHAW NFFQREFKCC GVVYFTDWLE MTEMDWPPDS
181 CCVREFPGCS KQAHQEDLSD LYQEGCGKKM YSFLRGTKQL QVLRFLGISI GVTQILAMIL
241 TITLLWALYY DRREPGTDQM MSLKNDNSQH LSCPSVELLK PSLSRIFEHT SMANSFNTHF
301 EMEELLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TSPAN12 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 86 nTPM
Expression across tissuesHPA
Tissue
- kidney: 86 nTPM
- adrenal gland: 62 nTPM
- heart muscle: 45 nTPM
- salivary gland: 44 nTPM
- lung: 43 nTPM
- small intestine: 40 nTPM
Single-cell type
- endometrial luminal cells: 184 nCPM
- breast lactating cells: 174 nCPM
- enterocytes: 125 nCPM
- parietal cells: 113 nCPM
- salivary acinar cells: 108 nCPM
- renal collecting duct intercalated cells: 93 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- thalamus: 15 nTPM
- medulla oblongata: 15 nTPM
- midbrain: 11 nTPM
- cerebellum: 8.8 nTPM
- pons: 8.6 nTPM
- hypothalamus: 7.7 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TSPAN12.
Disease | AllUniProt
Conditions TSPAN12 is implicated in, by any mechanism.
- Vitreoretinopathy, exudative 5 (EVR5) MIM:613310
Disease | GeneticClinVar
43 pathogenic / likely-pathogenic of 299 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.46
- gnomAD pLI
- 0.69
- gnomAD missense Z
- 0.77
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiogenesis
- cell surface receptor signaling pathway
- maintenance of blood-brain barrier
- Norrin signaling pathway
- regulation of angiogenesis
- retina layer formation
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TSPAN12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TSPAN12 as an antibody target. Whether an autoantibody or antibody against TSPAN12 could matter depends on whether native TSPAN12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TSPAN12 is annotated at the cell surface, where native TSPAN12 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label TSPAN12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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